نتایج جستجو برای: monosomy 21
تعداد نتایج: 249214 فیلتر نتایج به سال:
Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q...
PURPOSE In uveal melanoma, different predictors of poor prognosis have been identified, including monosomy of chromosome 3, HLA expression, and the presence of infiltrating leukocytes and macrophages. Each of these parameters can be used to differentiate prognostically the favorable tumors from the unfavorable ones, and thus the hypothesis for the present study was that they are related, and th...
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases h...
OBJECTIVE To estimate the accuracy and potential clinical effect of using massively parallel sequencing of maternal plasma DNA to detect fetal aneuploidy in a cohort of pregnant women carrying fetuses with nuchal cystic hygroma. METHODS The MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) study database was queried to identify eligible patients carrying fetuses with ...
PURPOSE To investigate the presence of focal or diffuse heterogeneity of monosomy 3 in uveal melanoma, by using fluorescence in situ hybridization (FISH). METHODS Direct interphase FISH in a series of 151 uveal melanomas revealed 82 tumors with loss of chromosome 3. Tumors with monosomy 3 were suspected to be heterogeneous if there were low percentages of monosomy 3, triploid clones, inconsis...
PURPOSE The aim of this study was to investigate the rate of monosomy 3 by CISH technique in Iranian patients with uveal melanoma (UM) and its correlation with clinical and histopathological features. METHOD Archival formalin fixed, paraffin-embedded material from 50 patients who had undergone enucleation for large uveal melanomas was obtained. Monosomy of chromosome 3 alteration by chromogen...
Studies on mitochondrial and cytoplasmic malate dehydrogenase in childhood myelodysplastic syndrome.
Three cases of uncommon childhood hematologic disorders are reported. At presentation, one patient had refractory anemia with an excess of blasts (RAEB) with partial 7-monosomy and was reclassified into RAEB "in transformation" thereafter. Another case was diagnosed as acute myelogenous leukemia with complete 7-monosomy. The other case was diagnosed as RAEB "in transformation" without chromosom...
Monosomal karyotype (MK) defined by either ⩾2 autosomal monosomies or single monosomy with at least one additional structural chromosomal abnormality is associated with a dismal prognosis in patients with acute myeloid leukemia (AML). It was detected in 174 of 3041 AML patients in South Korean Registry. A total of 119 patients who had received induction therapy were finally analyzed to evaluate...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید